ArticleJournal of medical genetics2013
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.PloS one · 2016Pooled it
- Genetic and lifestyle modifiers of haemochromatosis-related clinical outcomes in HFE C282Y homozygotes.JHEP reports : innovation in hepatology · 2026Article
- High Dietary Intake of Iron Might Be Harmful to Atrial Fibrillation and Modified by Genetic Diversity: A Prospective Cohort Study.Nutrients · 2024Article
- Biology of Anemia: A Public Health Perspective.The Journal of nutrition · 2023Article
- The <em>TMPRSS6</em> variant (SNP rs855791) affects iron metabolism and oral iron absorption - a stable iron isotope study in Taiwanese women.Haematologica · 2021Article
- Contributions of HFE polymorphisms to brain and blood iron load, and their links to cognitive and motor function in healthy adults.Neuropsychopharmacology reports · 2021Article
- Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.Scientific reports · 2021Article
- Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.Bioscience reports · 2021Article
- Methodological Approach of the Iron and Muscular Damage: Female Metabolism and Menstrual Cycle during Exercise Project (IronFEMME Study).International journal of environmental research and public health · 2021Observational
- Causal Effects of Genetically Predicted Iron Status on Sepsis: A Two-Sample Bidirectional Mendelian Randomization Study.Frontiers in nutrition · 2021Article
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
- A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.Frontiers in genetics · 2020Article
- Iron overload and cirrhosis in referredCanadian liver journal · 2020Article
- TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.International journal of molecular epidemiology and genetics · 2019Article
- Associations of Common Variants inDisease markers · 2019Article
- Necrotizing enterocolitis and high intestinal iron uptake due to genetic variants.Pediatric research · 2018Article
- Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.PloS one · 2016Article
- Iron and hepcidin as risk factors in atherosclerosis: what do the genes say?BMC genetics · 2015Article
- Composite prognostic models across the non-alcoholic fatty liver disease spectrum: Clinical application in developing countries.World journal of hepatology · 2015Review
- Iron-refractory iron deficiency anemia.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2015Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundGenome-wide association studies have convincingly shown that single nucleotide polymorphisms (SNPs) in HFE and TMPRSS6 are associated with iron parameters. It was commonly thought that these associations could be explained by the intermediate effect on hepcidin concentration. A recent study in an isolated Italian population, however, concluded that these associations were not exclusively dependent on hepcidin values. We report here the second study to investigate the role of hepcidin in the associations between common variants in HFE and TMPRSS6 with iron parameters.
methodsWe extracted 101 SNPs in HFE and TMPRSS6 from genome-wide imputed SNP data of 1832 individuals from the general population (Nijmegen Biomedical Study). Single locus and haplotype associations with serum iron parameters and hepcidin were studied using linear regression analyses.
resultsWe found that HFE rs1800562 and TMPRSS6 rs855791 are the main determinants of HFE and TMPRSS6 related variation in serum iron, ferritin, transferrin saturation, and total iron binding capacity. These SNPs are associated with the ratios hepcidin/ferritin (p<1×10(-5)) and hepcidin/transferrin saturation (p<1×10(-3)), but not with serum hepcidin (p>0.2). Adjustment for hepcidin or the ratio hepcidin/ferritin did not decrease the strength of the SNP-iron parameter associations.
conclusionsOur results do not support an intermediate role for hepcidin in the SNP-iron parameter associations, which confirms previous findings, and indicate a pleiotropic SNP effect on the hepcidin ratios and the iron parameters. Taken together, this suggests that there might be other, yet unknown, serum hepcidin independent mechanisms which play a role in the association of HFE and TMPRSS6 variants with serum iron parameters.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.